1. Abd El-Raziq M, Meir N, Saiegh-Haddad E. Morphosyntactic skills in Arabic-speaking children with autism spectrum disorder: Evidence from error patterns in the sentence repetition task. Autism Dev Lang Impair;2024 (Jan-Dec);9:23969415241234649.

BACKGROUND AND AIMS: Although autism spectrum disorder (ASD) has not traditionally been associated with morphosyntactic impairments, some children with ASD manifest significant difficulties in this domain. Sentence Repetition (SRep) tasks are highly reliable tools for detecting morphosyntactic impairment in different languages and across various populations, including children with ASD. This study is among the first to evaluate morphosyntactic abilities of Palestinian-Arabic (PA) speaking children using a PA SRep task. METHODS: A total of 142 PA-speaking children, aged 5-11, participated in the study: 75 children with typical language development (TLD) and 67 children with ASD. The PA SRep task targeted morphosyntactic structures of varying complexity (simple subject-verb-object [SVO] sentences, biclausal sentences, wh-questions, relative clauses). Children’s accuracy scores were assessed across these structures and error patterns encompassing morphosyntactic and pragmatic aspects were analyzed. RESULTS: Two subgroups of ASD emerged: 43% showed age-appropriate language skills (ASD  +  NL) pairing up with TLD peers, while 57% showed signs of morphosyntactic impairment (ASD  +  LI). Children in both groups exhibited a higher frequency of morphosyntactic errors than pragmatic ones. Children with ASD  +  LI showed difficulties with producing complex morphosyntactic structures, such as relative clauses and object wh-questions. Error analysis revealed that children in the ASD  +  LI group produced sentence fragments and simplified constructions when complex structures were targeted. CONCLUSIONS: The current study extends the cross-linguistic evidence of the heterogeneity of morphosyntactic profiles in children with ASD to Arabic-speaking children. Error analysis indicates that poor morphosyntax, rather than pragmatics, challenges children’s performance on the SRep task. IMPLICATIONS: Our results emphasize the importance of comprehensive language assessment in children with ASD and underscore the need for tailored intervention plans targeting impaired morphosyntactic structures in some children with ASD.

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2. Ahmed MM, Alawna M, Youssef ASA, Amin WM, Alajam RA, Morsy WE, Fayed E, Mohamed AA. Immediate effect of physical activity on the autonomic nervous system in individuals with autism spectrum disorders of different age groups: a randomised trial. BMJ Open Sport Exerc Med;2024;10(2):e001822.

BACKGROUND: Autism spectrum disorder (ASD) is one of the most complex neurodevelopmental disorders. It affects almost all human physiological systems. Individuals with ASD often display dysregulation in their autonomic nervous system (ANS), which may elicit differing effects across age groups. Also, studying the ANS missed several important parameters related to ANS. Studying the ANS is crucial in developing adaptive behavioural strategies and maintaining communication abilities and social behaviours. Thus, this study compared the immediate effect of physical activity on the ANS in individuals with ASD in different age groups. METHODS: 200 participants (106 males and 94 females) took part in a double-blinded randomised design. All participants were divided into four groups according to their age (4-7, 7-10, 10-13 and 14-18 years old). Participants performed a 60 min treadmill walk. The main outcome measurements were heart rate (HR), saturation of peripheral oxygen (SpO(2)), respiratory rate (RR) and end-tidal carbon dioxide (etCO(2)). RESULTS: Before the study, there were non-significant differences between groups in their physical characteristics (body mass index, Childhood Autism Rating Scale, physical activity level, both parents’ existence, aerobic capacity and gender) (p>0.05). At baseline measurements, there were non-significant differences between all groups for all outcome measurements (p>0.05). Immediately after physical activity, there was significant difference between group 1 and other groups (p<0.05), while all other differences were non-significant (p>0.05). At the follow-up (after 15 min of rest), group 1 maintained significant differences with the other groups for all outcome measurements (p<0.05), while there were non-significant differences between the other three groups (p>0.05). CONCLUSION: This study revealed that the SpO(2) significantly decreased immediately after the physical activity, while HR, RR and etCO(2) significantly increased immediately after physical activity in comparison to the baseline measurements. Contrary to other ANS parameters (SpO(2), RR and etCO(2)), HR in early ages (4-7 years old) was higher after physical activity and remained elevated longer than other ages. The early ages (4-7 years old) take more time to return to the normal status of ANS parameters including SpO(2), HR, RR and etCO(2). TRIAL REGISTRATION NUMBER: NCT05725733.

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3. Basavaraja GV. Embracing Differences: Raising Awareness About Autism Spectrum Disorder and Down Syndrome. Indian Pediatr;2024 (Apr 15);61(4):303-304.

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4. Blaess M, Eliot K. A Framework for RDN and SLP Collaboration: a Missing Piece in Autism Spectrum Disorder Treatment. J Acad Nutr Diet;2024 (Apr 12)

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5. Brady MJ, Jenkins CA, Gamble-Turner JM, Moseley RL, Janse van Rensburg M, Matthews RJ. « A perfect storm »: Autistic experiences of menopause and midlife. Autism;2024 (Apr 15):13623613241244548.

Previous studies report that menopause can be a very difficult transition for some autistic people. This study focuses on how autistic people experience menopause and what support and information might help them. Autistic Community Research Associates played an important role in the research and co-authored this article. We held four focus groups and eight interviews online with 24 autistic participants who lived in either Canada (n = 13) or the United Kingdom (n = 11). We analysed participant conversations using a method called reflexive thematic analysis. Participants described many intense challenges during menopause. Four themes and eight subthemes were identified across participant groups: (1) Complexity, multiplicity and intensity of symptoms (0 subthemes); (2) Life experience and adversity converging at midlife (three subthemes); (3) The importance of knowledge and connection (two subthemes); and (4) Barriers to support and care (three subthemes). The experiences of our participants may not be the same as other autistic people, and the study could have been more inclusive of diverse autistic groups. However, hearing about the experiences of others may provide reassurance to autistic people who struggle with menopause and let them know they are not alone.

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6. Cervantes J, Wallace J, Helms AK, Diekroger EA, Fogler J. Complex ADHD Challenging Case: When Simple Becomes Complex: Managing Clinician Bias and Navigating Challenging Family Dynamics in a 6-Year-Old Girl with ADHD and Developmental Delays. J Dev Behav Pediatr;2024 (Mar-Apr 01);45(2):e181-e184.

Layla is a 6.7-year-old girl diagnosed with attention-deficit/hyperactivity disorder (ADHD)-predominantly hyperactive/impulsive type-delayed adaptive skills, enuresis, unspecified malnutrition, and feeding difficulties. She presented to developmental-behavioral pediatrics (DBP) in January 2022 due to caregiver concerns for autism spectrum disorder (ASD).Layla lives in a polyamorous family with her biological mother and father, mother’s partner whom Layla refers to as her uncle, and her 2 half-siblings. There is a maternal history of special education services, schizoaffective disorder, bipolar disorder, multiple sclerosis, Wolff-Parkinson-White syndrome, and ADHD. Layla’s father is a veteran diagnosed with post-traumatic stress disorder. Layla’s siblings, aged 5 and 9 years, have established diagnoses of ADHD, ASD, global developmental delays, behavioral concerns, and poor sleep. There is a history of adverse childhood experiences, including parental mental health, poverty, and involvement with child protective services. Acknowledgement and inclusion of all members of this diverse family structure, as well as consistent validation from the DBP and social worker, allowed a strong treatment alliance to form and the mother continued to contact the DBP clinic, even for those questions related to other specialties. A social worker received weekly calls from the mother sharing grievances related to feeling misunderstood and spoke about the assumptions she felt external providers made about her family, culture, and parenting styles. For example, she recalls the pediatrician commenting about their family structure being « confusing for the children » and describing their home as « chaotic, » assumptions that may not have been made of nuclear family structures. Behavioral therapies were a repeated recommendation, but the mother verbalized not being interested in these options as she had participated in parent management training several years earlier and felt that the strategies taught were not applicable to her unique family structure, to which the clinician replied, « this is the standard recommendation for all children this age with disruptive behaviors. » Although the mother was initially hesitant to trial medications, she eventually agreed that Layla’s symptoms were negatively affecting her school performance, and the DBP initiated a stimulant medication.Layla’s initial evaluation included a developmental history, behavioral observations, and standardized testing. The results from developmental testing demonstrated age equivalents between 4 and 6 years across gross motor, adaptive, visual motor, and speech-language domains.On observation, Layla was extremely active. During the visit, she walked over to her mother, made eye contact, and showed her the picture that she had drawn. She engaged in imaginary play, reciprocal conversation, and responded to social bids. The mother felt strongly that Layla had ASD and reported symptoms such as motor stereotypies (hand flapping), covering ears with certain noises/sounds, and rigidity when it came to things being a certain way or a certain color. These behaviors did not occur in the initial or subsequent clinic visits with DBP, her general pediatrician, or during other outside evaluations the mother pursued. The DBP felt strongly that Layla was mimicking her siblings’ symptoms and provided ongoing education regarding ADHD symptomology.In terms of behavior management, the mother did not attempt to redirect Layla’s behaviors during the initial clinic visit and in subsequent visits, and both adult men yelled loudly, clapped, and hit their hands on the table as a form of redirection. The mother continued to voice her diagnostic disagreement with the DBP and the pediatrician and insisted that Layla met the criteria for ASD. When the mother reviewed the report, a statement insinuating that Layla’s behaviors were « understandable given parental inconsistency and complicated family structure » upset her.What factors would you consider when thinking about caregiver disagreement with the diagnosis and treatment plan? Does diagnostic overshadowing apply here?

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7. Chattopadhyay N. Autism Screening in India: Many a Chasm to Bridge. Indian Pediatr;2024 (Apr 15);61(4):321-322.

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8. Chen Y, Li W, Lv L, Yue W. Shared Genetic Determinants of Schizophrenia and Autism Spectrum Disorder Implicate Opposite Risk Patterns: A Genome-Wide Analysis of Common Variants. Schizophr Bull;2024 (Apr 14)

BACKGROUND AND HYPOTHESIS: The synaptic pruning hypothesis posits that schizophrenia (SCZ) and autism spectrum disorder (ASD) may represent opposite ends of neurodevelopmental disorders: individuals with ASD exhibit an overabundance of synapses and connections while SCZ was characterized by excessive pruning of synapses and a reduction. Given the strong genetic predisposition of both disorders, we propose a shared genetic component, with certain loci having differential regulatory impacts. STUDY DESIGN: Genome-Wide single nucleotide polymorphism (SNP) data of European descent from SCZ (N cases = 53 386, N controls = 77 258) and ASD (N cases = 18 381, N controls = 27 969) were analyzed. We used genetic correlation, bivariate causal mixture model, conditional false discovery rate method, colocalization, Transcriptome-Wide Association Study (TWAS), and Phenome-Wide Association Study (PheWAS) to investigate the genetic overlap and gene expression pattern. STUDY RESULTS: We found a positive genetic correlation between SCZ and ASD (rg = .26, SE = 0.01, P = 7.87e-14), with 11 genomic loci jointly influencing both conditions (conjFDR <0.05). Functional analysis highlights a significant enrichment of shared genes during early to mid-fetal developmental stages. A notable genetic region on chromosome 17q21.31 (lead SNP rs2696609) showed strong evidence of colocalization (PP.H4.abf = 0.85). This SNP rs2696609 is linked to many imaging-derived brain phenotypes. TWAS indicated opposing gene expression patterns (primarily pseudogenes and long noncoding RNAs [lncRNAs]) for ASD and SCZ in the 17q21.31 region and some genes (LRRC37A4P, LINC02210, and DND1P1) exhibit considerable variation in the cerebellum across the lifespan. CONCLUSIONS: Our findings support a shared genetic basis for SCZ and ASD. A common genetic variant, rs2696609, located in the Chr17q21.31 locus, may exert differential risk regulation on SCZ and ASD by altering brain structure. Future studies should focus on the role of pseudogenes, lncRNAs, and cerebellum in synaptic pruning and neurodevelopmental disorders.

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9. Chirica MG, Zhu Y, Mu W, Zhou H, Gong J, Chan RCK, Kwapil TR, Berenbaum H. Exploring phenotypic overlap across schizotypy and autism spectrum conditions in American and Chinese young adults. Schizophr Res;2024 (Apr 15);267:359-366.

Competing theories have been proposed to explain the considerable overlap in social-cognitive features and risk factors across schizotypy and autism spectrum conditions (ASCs). Six previous factor analyses have been reported in the literature, yet all have major limitations; evidence for the clear superiority of any of the competing theories is insufficient and warrants further investigation. The primary aim of the present research was to identify dimensions that cut across schizotypy and ASCs while addressing limitations of past research. Data were collected from three independent samples (n = 1006, 544, and 2469) in the U.S. and China using the Autism-Spectrum Quotient, the Schizotypal Personality Questionnaire, and the Wisconsin Schizotypy Scales. Exploratory factor analyses in Sample 1 identified an interpretable three-factor structure, which was replicated in Samples 2 and 3 using confirmatory factor analyses. We found consistent evidence for three dimensions (Aberrant Salience, Asociality, and Concrete Thinking) underlying schizotypy and ASCs. This three-dimension model is consistent with a common vulnerability model of schizotypy and ASCs. Implications of these findings for the schizotypy and ASCs literature are discussed.

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10. Christensen GM, Terrell ML, Pearce BD, Hood RB, Barton H, Pearson M, Marcus M. Exploring autism spectrum disorder (ASD) and attention deficit disorder (ADD/ADHD) in children exposed to polybrominated biphenyl. Environ Epidemiol;2024 (Apr);8(2):e304.

BACKGROUND: Although the causes of attention-deficit/hyperactivity disorder (ADHD) and autism have not been identified, exposure to endocrine-disrupting chemicals, such as polybrominated biphenyl (PBB), during fetal development and early life has been suspected to impact neurological development. This study aims to investigate the association between prenatal and early life exposure to PBB and the development of ADHD and autism later in life. METHODS: Data from the Michigan PBB Registry, a cohort of Michigan residents who had been exposed to PBB in a mass contamination event in 1973, was leveraged for this nested case-control analysis among two distinct samples: (1) Those who self-reported ADHD or autism diagnosis, and (2) mothers who reported their child’s ADHD or autism diagnosis. PBB exposure was measured in participants of the PBB Registry, and the mother’s PBB level was used in mother-reported analyses. Cases were matched with controls by sex and year of birth. Conditional logistic regression models were used to estimate the association between PBB level and case status. RESULTS: PBB levels were higher among those who were exposed in early life compared with those exposed in utero (geometric mean: 0.300 ng/ml vs. 0.016 ng/ml). Among women in this cohort, a higher than expected proportion of self-reported ADHD diagnosis (11.11%), compared with population estimates. PBB was not associated with ADHD or autism in either self-reported or mother-reported analyses. CONCLUSIONS: This study adds to the sparse literature about prenatal and early life exposure to PBB-153 and ADHD and autism. Future studies should examine potential effect modification by sex.

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11. Jiao D, Xu Y, Tian F, Zhou Y, Chen D, Wang Y. Establishment of animal models and behavioral studies for autism spectrum disorders. J Int Med Res;2024 (Apr);52(4):3000605241245293.

In recent years, the incidence of autism spectrum disorder (ASD) has increased, but the etiology and pathogenesis remain unclear. In this narrative review, we review and systematically summarize the methods used to construct animal models to study ASD and the related behavioral studies based on recent literature. Utilization of various ASD animal models can complement research on the etiology, pathogenesis, and core behaviors of ASD, providing information and a foundation for further basic research and clinical treatment of ASD.

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12. Kc S, Gupta RK, Kumar A, Khanal B, Lamichhane S, Buhusal A, Sah VP, Bartaula S, Raki IH, Jindal R. Acute intestinal obstruction secondary to ingested foreign body in an adult with autism spectrum disorder: A rare case report and review of literature. Clin Case Rep;2024 (Apr);12(4):e8759.

KEY CLINICAL MESSAGE: Foreign body ingestion is common in pediatric age group however can be found in any age group with intellectual disability and neurodevelopmental delay. There is usually a delay in presentation and interventions following foreign body ingestion in patients with neurodevelopmental delay, leading to increased morbidity, mortality, and complications owing to inability of such patients giving relevant history. Most ingested foreign bodies naturally pass through the digestive tract without untoward effects. Only a few patients may require surgical interventions. Principle of management should be to reduce anxiety among patients and their visitors. Speedy recovery is enhanced so that they can return to their familiar environment soon. ABSTRACT: Foreign body ingestion is common in pediatric populations and may be found in any age group with intellectual disability and neurodevelopmental delay. As the patient cannot give a clear and relevant history, there is usually a delay in presentation and interventions following foreign body ingestion in patients with neurodevelopmental delay, leading to increased morbidity, mortality, and complications. Most foreign bodies pass through the digestive system without any complications, and very few require surgical intervention. The goal should be to reduce anxiety among patients and their visitors and to enhance speedy recovery so that they can return to their familiar environment soon. Here we report a case of Acute intestinal obstruction secondary to ingestion of the head portion of a doll which was managed with emergency laparotomy with enterotomy and removal of foreign body in a 16 years female with Autism Spectrum Disorder.

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13. Klaus J, Stoodley CJ, Schutter D. Neurodevelopmental trajectories of cerebellar grey matter associated with verbal abilities in males with autism spectrum disorder. Dev Cogn Neurosci;2024 (Apr 9);67:101379.

Autism spectrum disorder (ASD) is a neurodevelopmental condition frequently associated with structural cerebellar abnormalities. Whether cerebellar grey matter volumes (GMV) are linked to verbal impairments remains controversial. Here, the association between cerebellar GMV and verbal abilities in ASD was examined across the lifespan. Lobular segmentation of the cerebellum was performed on structural MRI scans from the ABIDE I dataset in male individuals with ASD (N=144, age: 8.5-64.0 years) and neurotypical controls (N=188; age: 8.0-56.2 years). Stepwise linear mixed effects modeling including group (ASD vs. neurotypical controls), lobule-wise GMV, and age was performed to identify cerebellar lobules which best predicted verbal abilities as measured by verbal IQ (VIQ). An age-specific association between VIQ and GMV of bilateral Crus II was found in ASD relative to neurotypical controls. In children with ASD, higher VIQ was associated with larger GMV of left Crus II but smaller GMV of right Crus II. By contrast, in adults with ASD, higher VIQ was associated with smaller GMV of left Crus II and larger GMV of right Crus II. These findings indicate that relative to the contralateral hemisphere, an initial reliance on the language-nonspecific left cerebellar hemisphere is offset by more typical right-lateralization in adulthood.

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14. Li C, Chen H, Gu Y, Chen W, Liu M, Lei Q, Li Y, Liang X, Wei B, Huang D, Liu S, Su L, Zeng X, Wang L. Causal effects of PM(2.5) exposure on neuropsychiatric disorders and the mediation via gut microbiota: A Mendelian randomization study. Ecotoxicol Environ Saf;2024 (Apr 15);275:116257.

BACKGROUND: Growing evidence has revealed the impacts of exposure to fine particulate matter (PM(2.5)) and dysbiosis of gut microbiota on neuropsychiatric disorders, but the causal inference remains controversial due to residual confounders in observational studies. METHODS: This study aimed to examine the causal effects of exposure to PM(2.5) on 4 major neuropsychiatric disorders (number of cases = 18,381 for autism spectrum disorder [ASD], 38,691 for attention deficit hyperactivity disorder [ADHD], 67,390 for schizophrenia, and 21,982 cases for Alzheimer’s disease [AD]), and the mediation pathway through gut microbiota. Two-sample Mendelian randomization (MR) analyses were performed, in which genetic instruments were identified from genome-wide association studies (GWASs). The included GWASs were available from (1) MRC Integrative Epidemiology Unit (MRC-IEU) for PM(2.5), PM(coarse), PM(10), and NO(X); (2) the Psychiatric Genomics Consortium (PGC) for ASD, ADHD, and schizophrenia; (3) MRC-IEU for AD; and (4) MiBioGen for gut microbiota. Multivariable MR analyses were conducted to adjust for exposure to NO(X), PM(coarse), and PM(10). We also examined the mediation effects of gut microbiota in the associations between PM(2.5) exposure levels and neuropsychiatric disorders, using two-step MR analyses. RESULTS: Each 1 standard deviation (1.06 ug/m(3)) increment in PM(2.5) concentrations was associated with elevated risk of ASD (odds ratio [OR] 1.42, 95% confidence interval [CI] 1.00-2.02), ADHD (1.51, 1.15-1.98), schizophrenia (1.47, 1.15-1.87), and AD (1.57, 1.16-2.12). For all the 4 neurodevelopmental disorders, the results were robust under various sensitivity analyses, while the MR-Egger method yielded non-significant outcomes. The associations remained significant for all the 4 neuropsychiatric disorders after adjusting for PM(coarse), while non-significant after adjusting for NO(X) and PM(10). The effects of PM(2.5) exposure on ADHD and schizophrenia were partially mediated by Lachnospiraceae and Barnesiella, with the proportions ranging from 8.31% to 15.77%. CONCLUSIONS: This study suggested that exposure to PM(2.5) would increase the risk of neuropsychiatric disorders, partially by influencing the profile of gut microbiota. Comprehensive regulations on air pollutants are needed to help prevent neuropsychiatric disorders.

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15. Mirzaian CB, Deavenport-Saman A, Hudson SM, Betz CL. Barriers to Mental Health Care Transition for Youth and Young Adults with Intellectual and Developmental Disabilities and Co-occurring Mental Health Conditions: Stakeholders’ Perspectives. Community Ment Health J;2024 (Apr 15)

Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during transition from pediatric to adult health and mental health care can be a very challenging, with risk of loss of services leading to poor outcomes. This study aimed to explore barriers to transition from pediatric to adult health and mental health care and services for individuals with IDD and co-occurring MH conditions, by eliciting the view of stakeholders, including disability advocates. Qualitative analysis was conducted using grounded theory, and themes were coded based upon the social-ecological model (SEM). We generated themes into multiple levels: the individual level, the family level, the provider level, the systems of care level, and the societal level. Stakeholders expressed a critical need to improve coordination between systems, and to increase provider availability to care for YYA with IDD and co-occurring MH conditions.

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16. Morozova YV, Smirnov VN, Makarov IV, Emelina DA. The Use of Umbilical Cord Blood Nucleated Cells in the Treatment of Regressive Autism: A Case Report. Consort Psychiatr;2023 (Dec 22);4(4):39-47.

BACKGROUND: Interest in the issue of childhood autism has surged in the recent decades. At the same time, despite the significant progress achieved in understanding the etiological and pathogenetic aspects of the condition, effective ways to treat it have continued to elude us. Stem cell therapy appears to hold great promise in the treatment and rehabilitation of patients with both neurological diseases (cerebral palsy, hydrocephalus) and mental disorders (autism, schizophrenia). METHODS: This article presents a case report describing the use of nucleated cord blood cells in a patient with regressive autism and resistance to standard therapies. The child’s condition was assessed before treatment and 6 and 12 months after. RESULTS: Clinical observation, psychometric, and instrumental diagnostic methods led to a significant improvement in the child’s condition in the form of perception development, reduction of somatosensory disorders, normalization of emotional status, and a development of social and communication skills. CONCLUSION: We assume that the result obtained may be associated with the normalization of the immunological status of our patient thanks to the cord blood cells therapy and consider it necessary to conduct further studies into the effectiveness of the method, taking the pathogenic mechanisms of autism into account.

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17. Mostafavi M, Sayej W. Characterization of Initial Gastrointestinal Evaluation of Children with Autism Spectrum Disorder: A Descriptive Study. J Autism Dev Disord;2024 (Apr 15)

Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder affecting 1 in 36 children in the United States. Given the rising prevalence and significant economic and social costs associated with ASD, it is critical that continued efforts be made towards better understanding the underlying etiology as well as management of the condition and its commonly associated comorbidities. It has been estimated that upwards of 70% of children with ASD have a positive history of gastrointestinal (GI) symptoms. In this retrospective, descriptive study, we identified 131 patients with diagnosis of autism spectrum disorder who presented for initial evaluation by pediatric gastroenterology at the Baystate Children’s Specialty Center. We collected data from chart review of these patients with a particular focus on reason for referral, components of evaluation as well as results of said evaluation. Of the 131 patients, the most frequent reason for referral included constipation (42.7%), abdominal pain (27.5%), and feeding difficulties (26.7%). After completion of the evaluation, 60.3% of patients were ultimately diagnosed with a functional gastrointestinal condition. Of patients who completed endoscopic evaluation, 40% of patients were found to have grossly abnormal and 40% were found to have pathologically abnormal EGD. The majority of patients were recommended to have diagnostic evaluation; however, a large proportion of them were unable to complete said evaluation. The majority of patients were found to have abnormal testing; however, the majority of patients were additionally diagnosed with a functional gastrointestinal condition.

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18. Mukherjee SB, Manivannan D, Sharma S. Validation of the Hindi Versions of Three Autism Specific Screening Tools (M-CHAT-R/F, RBSK-ASQ and TABC) Widely Used in India in 16-30-Month-Old Children. Indian Pediatr;2024 (Apr 15);61(4):323-329.

OBJECTIVE: To determine the diagnostic accuracy of MCHAT-R/F, RBSK-ASQ and TABC for screening children aged 16 to 30 months for autism spectrum disorder (ASD). METHOD: Children aged 16 to 30 months were recruited from the pediatrics department. Those with known neurodevelopmental disorders, disabilities, severe medical illnesses, unavailable mothers, or lack of maternal understanding of Hindi, were excluded. The three index tools were translated into Hindi; each tool was piloted on 25 mothers and modified accordingly. The researcher was trained in administration, scoring and interpretation of the three tools. After enrollment the index tools and Developmental Profile (DP-3) were administered to each participant. The reference tool was a comprehensive assessment by experts that included clinical evaluation, computation of DP-3 scores, and application of diagnostic criteria of ASD; the final diagnosis being ASD or Non-ASD. RESULTS: Sensitivity and specificity of M-CHAT-R/F were 95.2% and 94.4%, of RBSK-ASQ were 100% and 93.9%, and of TABC were 100% and 94.4%, respectively. Convergent validity was high (Spearman’s correlation coefficient 0.98). Test-retest and inter-rater reliability of each tool was excellent (Intra-class correlation coefficient 1.00). CONCLUSION: All three tools had acceptable psychometric properties, high convergent validity and excellent test-retest and inter-rater reliability.

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19. Peterson T, Dodson J, Strale F, Jr. Replicative Study of the Impacts of Applied Behavior Analysis on Target Behaviors in Individuals With Autism Using Repeated Measures. Cureus;2024 (Mar);16(3):e56226.

Background The effectiveness of interventions based on applied behavior analysis (ABA) for individuals with autism has been well documented in numerous meta-analyses, systematic reviews, and cost-benefit analyses. However, an observed ‘efficacy-effectiveness gap’ exists, which can be attributed to various factors. This third replication study, therefore, has significant implications for the field. By assessing the impact of ABA treatment, specifically involving discrete trial training and mass trials, within a naturalistic environment, the study provides valuable insights that can inform and improve the delivery of ABA treatments in real-world settings. Methods The study was conducted using a repeated measures research design. Retrospective chart review data were collected from 62 individuals with autism, age (M=8.65, SD=4.53), all of whom were level two autistic and required moderate support in communication, socialization, and daily life. These individuals received ABA treatment over five months. The study measured cumulative target behaviors using a repeated measures design, which allowed for the identification of statistically significant differences across 12 time points. This robust methodology ensures the validity and reliability of the study’s findings. Results Mixed repeated measures analysis of variance (ANOVA) indicated statistical significance (sphericity assumed), F(11,495) = 55.432, p < 0.001 (time). Multiple comparisons using bootstrapped paired t-tests showed p < 0.05 on time points 1-8 and non-significance (p > 0.05) on time points 9-12. There was a significant interaction effect (sphericity assumed) with time x (age category), F(44,495) = 2.338, p < 0.001. Interaction contrasts indicated statistically significant differences over time, mainly within the one-year to four-year-old, five to eight-year-old, and most in the nine to 12-year-old age groups. There was some significance within the 13- to 16-year-old age group and no significance within the 17- to 26-year-old age group. Conclusions Over five months, individuals with autism who underwent ABA treatments demonstrated a statistically significant enhancement in general target behaviors. This finding is crucial as it underscores the effectiveness of ABA treatments in a naturalistic environment. Moreover, the study's discovery of a significant interaction between time and age in these behaviors provides valuable insights into the impact of age on treatment outcomes. Extensive large-N studies of general ABA broad effectiveness and repeated measures designs are lacking and can lead to further research to improve quality and outcomes. These findings contribute to the body of empirical evidence and emphasize the importance of replicative efficacy studies in ensuring the reliability of research findings.

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20. Shuster CL, Brennan PA, Carter BS, Check J, D’Sa V, Graff JC, Helderman J, Hofheimer JA, Joseph RM, Murphy LE, O’Connor TG, O’Shea TM, Pievsky M, Sheinkopf SJ, Shuffrey LC, Smith LM, Wu PC, Lester BM. Developmental characteristics and accuracy of autism screening among two-year-old toddlers in the ECHO program. Pediatr Res;2024 (Apr 15)

BACKGROUND: The Modified Checklist for Autism in Toddlers (M-CHAT) is a common pediatric screening tool with mixed accuracy findings. Prior evidence supports M-CHAT screening for developmental concerns, especially in toddlers born preterm. This study examined M-CHAT accuracy in a large, nationwide sample. METHODS: 3393 participants from the Environmental influences on Child Health Outcomes (ECHO) program were included. Harmonized M-CHAT (M-CHAT-H) results were compared with parent-reported autism diagnosis and autism-related characteristics to assess accuracy for term and preterm children, together and separately. Generalized estimating equations, clustering for ECHO cohort and controlling for demographic covariates, were used to examine associations between developmental and behavioral characteristics with M-CHAT-H accuracy. RESULTS: Sensitivity of the M-CHAT-H ranged from 36 to 60%; specificity ranged from 88 to 99%. Positive M-CHAT-H was associated with more developmental delays and behavior problems. Children with severe motor delays and more autism-related problems were more likely to have a false-negative M-CHAT-H. Children with fewer behavior problems and fewer autism-related concerns were more likely to have a false-positive screen. CONCLUSION: The M-CHAT-H accurately detects children at low risk for autism and children at increased risk with moderate accuracy. These findings support use of the M-CHAT-H in assessing autism risk and developmental and behavioral concerns in children. IMPACT: Previous literature regarding accuracy of the Modified Checklist for Autism in Toddlers (M-CHAT) is mixed but this study provides evidence that the M-CHAT performs well in detecting children at low risk for autism and consistently detects children with developmental delays and behavioral problems. The M-CHAT moderately detects children at increased risk for autism and remains a useful screening tool. This study examines M-CHAT accuracy in a large-scale, nationwide sample, examining associations between screening accuracy and developmental outcomes. These findings impact pediatric screening for autism, supporting continued use of the M-CHAT while further elucidating the factors associated with inaccurate screens.

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21. Skoblo GV, Trushkina SV. The Interdisciplinary Diagnostics of Autism Spectrum Disorder Using DC:0-5(TM): A Case Report. Consort Psychiatr;2023 (Dec 22);4(4):49-56.

BACKGROUND: The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5(TM)) is widely used in many Western countries. For Russian specialists, such classification represents a relatively new tool for the comprehensive diagnosis of mental disorders in children from birth to the five-year-old threshold. The purpose for presenting this case study report is to showcase the practical application of the DC:0-5(TM). AIM: This study aims to illustrate the diagnostic process according to the DC:0-5(TM) criteria using the example of a specific clinical case report involving the collaborative efforts of two specialists: a child psychiatrist and a clinical child psychologist. METHODS: DC:0-5(TM) consists of five axes. The main axis focuses on clinical diagnosis criteria for mental disorders, considering their age specificity. The remaining four axes allow one to take into account and specify data related to biological, social, and psychological factors, which play a crucial role in understanding the causes and characteristics of a mental disorder in a child. RESULTS: In the examined case, an analysis of symptoms by means of the Clinical Disorders axis revealed that they were consistent with the diagnostic criteria for autism spectrum disorder. The use of the remaining axes supplemented the clinical diagnosis with specific details about the adverse physical health factors in the child, a high cumulative stress burden, significant developmental delays in the emotional, speech, and social dimensions, as well as dysfunction in the mother-child dyad. Since the parents declined medication for their son, this information proved crucial in developing a support program for both the child and the family. CONCLUSION: The comprehensive diagnostic approach using the DC:0-5(TM) axes proved highly effective, not only in psychiatric diagnosis but also in establishing goals and objectives for subsequent intervention. Its application in psychiatric, clinical psychology, and corrective educational practices has the potential to make support for children in their early years a more personalized and family-oriented undertaking.

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22. Thabault M, Fernandes-Gomes C, Huot AL, Francheteau M, Balbous-Gautier A, Fernagut PO, Galvan L. Dysfunction of striatal parvalbumin interneurons drives motor stereotypies in Cntnap2-/- mouse model of autism spectrum disorders. PNAS Nexus;2024 (Apr);3(4):pgae132.

The involvement of parvalbumin (PV) interneurons in autism spectrum disorders (ASD) pathophysiology has been widely described without clearly elucidating how their dysfunctions could lead to ASD symptoms. The Cntnap2-/- mice, an ASD mouse model deficient for a major ASD susceptibility gene, display core ASD symptoms including motor stereotypies, which are directly linked to striatal dysfunction. This study reveals that striatal PV interneurons display hyperexcitability and hyperactivity in Cntnap2-/- mice, along with a reduced response in medium spiny neurons. We also provide evidence for a crucial role of striatal PV interneurons in motor stereotypies by demonstrating that their selective inhibition rescued a wild type-like phenotype. Our study identifies how PV interneuron dysfunctions disrupt striatal circuitry and drive the motor stereotypies in ASD.

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23. Wei Q, Dong W, Yu D, Wang K, Yang T, Xiao Y, Long D, Xiong H, Chen J, Xu X, Li T. Early identification of autism spectrum disorder based on machine learning with eye-tracking data. J Affect Disord;2024 (Apr 12)

BACKGROUND: Early identification of autism spectrum disorder (ASD) improves long-term outcomes, yet significant diagnostic delays persist. METHODS: A retrospective cohort of 449 children (ASD: 246, typically developing [TD]: 203) was used for model development. Eye-movement data were collected from the participants watching videos that featured eye-tracking paradigms for assessing social and non-social cognition. Five machine learning algorithms, namely random forest, support vector machine, logistic regression, artificial neural network, and extreme gradient boosting, were trained to classify children with ASD and TD. The best-performing algorithm was selected to build the final model which was further evaluated in a prospective cohort of 80 children. The Shapley values interpreted important eye-tracking features. RESULTS: Random forest outperformed other algorithms during model development and achieved an area under the curve of 0.849 (< 3 years: 0.832, ≥ 3 years: 0.868) on the external validation set. Of the ten most important eye-tracking features, three measured social cognition, and the rest were related to non-social cognition. A deterioration in model performance was observed using only the social or non-social cognition-related eye-tracking features. LIMITATIONS: The sample size of this study, although larger than that of existing studies of ASD based on eye-tracking data, was still relatively small compared to the number of features. CONCLUSIONS: Machine learning models based on eye-tracking data have the potential to be cost- and time-efficient digital tools for the early identification of ASD. Eye-tracking phenotypes related to social and non-social cognition play an important role in distinguishing children with ASD from TD children.

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